ClinVar Miner

List of variants reported as uncertain significance for immune system disorder by ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000377.3(WAS):c.995T>C (p.Val332Ala) rs2737799 0.00489
NM_005141.5(FGB):c.794C>T (p.Pro265Leu) rs6054 0.00275
NM_139027.6(ADAMTS13):c.559G>C (p.Asp187His) rs148312697 0.00043
NM_000081.4(LYST):c.6782G>A (p.Arg2261His) rs147791378 0.00031
NM_003664.5(AP3B1):c.1022G>A (p.Arg341His) rs141832130 0.00023
NM_001261826.3(AP3D1):c.2936C>T (p.Pro979Leu) rs776432599 0.00004
NM_000081.4(LYST):c.10870G>A (p.Val3624Ile) rs776033238 0.00003
NM_000081.4(LYST):c.10507G>A (p.Ala3503Thr)
NM_000081.4(LYST):c.1184G>A (p.Arg395His)
NM_000081.4(LYST):c.6079G>C (p.Val2027Leu)
NM_000081.4(LYST):c.7688C>T (p.Thr2563Ile)
NM_000081.4(LYST):c.8827T>C (p.Tyr2943His)
NM_000377.3(WAS):c.1429A>G (p.Arg477Gly) rs2147267330
NM_000377.3(WAS):c.360+5G>A
NM_000377.3(WAS):c.445A>T (p.Asn149Tyr) rs2147263992
NM_001261826.3(AP3D1):c.1523G>C (p.Arg508Pro) rs768071199
NM_021870.3(FGG):c.793C>T (p.Gln265Ter) rs771279321
NM_021871.4(FGA):c.1486G>T (p.Asp496Tyr) rs2110809573
NM_031471.6(FERMT3):c.593T>C (p.Leu198Pro)
NM_198291.3(SRC):c.1585C>G (p.Gln529Glu)

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